Linked Data
gnomAD v4:
6-31271098-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271100del , CM000668.2:g.31271100del | GRCh38 |
| NC_000006.11:g.31238877del , CM000668.1:g.31238877del | GRCh37 |
| NC_000006.10:g.31346856del | NCBI36 |
| NG_029422.2:g.6033del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.593del MANE Select | ENSP00000365402.5:p.Asn198ThrfsTer16 | |
| ENST00000376228.9:c.593del | ENSP00000365402.5:p.Asn198ThrfsTer16 | |
| ENST00000376237.8:c.*180del | ENSP00000365412.4:n.*180del | |
| ENST00000383329.7:c.593del | ENSP00000372819.3:p.Asn198ThrfsTer16 | |
| ENST00000415537.1:c.591del | ||
| ENST00000484378.1:n.862del | ||
| ENST00000487245.5:n.952del | ||
| ENST00000495835.1:n.782del | ||
| NM_002117.5:c.593del | NP_002108.4:p.Asn198ThrfsTer16 | |
| NM_002117.6:c.593del MANE Select | NP_002108.4:p.Asn198ThrfsTer16 |